Rare hereditary hemochromatosis

General Information (adopted from Orphanet):

Synonyms, Signs: Iron overload disease
Number of Symptoms 3
OrphanetNr: 220489
OMIM Id:
ICD-10: E83.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
15747119 [IBIS]
Age of onset: Adolescent
Adult
15747119 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of iron metabolism and transport
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease

Comment:

Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease (Orphanet). This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Rare hereditary hemochromatosis comprises the following Phenodis entries: Phenodis:10851 Hemochromatosis, type 2A OMIM:602390; Phenodis:11565 Hemochromatosis, type 2B OMIM:613313; Phenodis:2368 Hemochromatosis type 3 Orphanet:225123; Phenodis:654 Hemochromatosis type 4 Orphanet:139491; Phenodis:12205 Hemochromatosis, type 5 OMIM:615517;

Symptom Information: Sort by abundance 

1
 (HPO:0003281) Increased serum ferritin Very frequent [IBIS] 25064704 IBIS 32 / 7739
2
 (HPO:0012463) Elevated transferrin saturation Very frequent [IBIS] 25064704 IBIS 10 / 7739
3
 (HPO:0011031) Abnormality of iron homeostasis Very frequent [IBIS] 25064704 IBIS 16 / 7739

Associated genes:

SLC40A1; TFR2; HJV; HAMP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: